303098002: deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

445173015 3-Phosphoglycerate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
699276016 3-Phosphoglycerate dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7890301000146116 deficiëntie van 3-fosfoglyceraatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7890311000146119 deficiëntie van 3-fosfoglyceraatdehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7890321000146112 deficiëntie van 3-PGDH nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7890331000146114 3-fosfoglyceraatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Phosphoglycerate dehydrogenase deficiency	Is a	Disorder of serine metabolism	true	Inferred relationship	Some
3-Phosphoglycerate dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
3-Phosphoglycerate dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some
Neu-Laxova syndrome	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some

This concept is not in any reference sets